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Aliases for WHSC1 Gene

Aliases for WHSC1 Gene

  • Wolf-Hirschhorn Syndrome Candidate 1 2 3 5
  • Nuclear Receptor Binding SET Domain Protein 2 2 3
  • Nuclear SET Domain-Containing Protein 2 3 4
  • EC 2.1.1.43 4 63
  • MMSET 3 4
  • NSD2 3 4
  • TRX5 3 4
  • Multiple Myeloma SET Domain Containing Protein Type III 3
  • Probable Histone-Lysine N-Methyltransferase NSD2 3
  • Multiple Myeloma SET Domain Containing Protein 2
  • Multiple Myeloma SET Domain-Containing Protein 4
  • Wolf-Hirschhorn Syndrome Candidate 1 Protein 4
  • IL5 Promoter REII Region-Binding Protein 3
  • Trithorax/Ash1-Related Protein 5 3
  • Protein Trithorax-5 4
  • KIAA1090 4
  • REIIBP 3
  • WHS 3

External Ids for WHSC1 Gene

Previous GeneCards Identifiers for WHSC1 Gene

  • GC04P001886
  • GC04M001800
  • GC04P001834
  • GC04P001856
  • GC04P001840

Summaries for WHSC1 Gene

Entrez Gene Summary for WHSC1 Gene

  • This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]

GeneCards Summary for WHSC1 Gene

WHSC1 (Wolf-Hirschhorn Syndrome Candidate 1) is a Protein Coding gene. Diseases associated with WHSC1 include wolf-hirschhorn syndrome and myeloma. Among its related pathways are Lysine degradation and Transcriptional misregulation in cancer. GO annotations related to this gene include sequence-specific DNA binding and histone-lysine N-methyltransferase activity. An important paralog of this gene is EHMT1.

UniProtKB/Swiss-Prot for WHSC1 Gene

  • Histone methyltransferase with histone H3 Lys-27 (H3K27me) methyltransferase activity. Isoform RE-IIBP may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.

Gene Wiki entry for WHSC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WHSC1 Gene

Genomics for WHSC1 Gene

Regulatory Elements for WHSC1 Gene

Enhancers for WHSC1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around WHSC1 on UCSC Golden Path with GeneCards custom track

Promoters for WHSC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WHSC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for WHSC1 Gene

Chromosome:
4
Start:
1,871,396 bp from pter
End:
1,982,207 bp from pter
Size:
110,812 bases
Orientation:
Plus strand

Genomic View for WHSC1 Gene

Genes around WHSC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WHSC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WHSC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WHSC1 Gene

Proteins for WHSC1 Gene

  • Protein details for WHSC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96028-NSD2_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase NSD2
    Protein Accession:
    O96028
    Secondary Accessions:
    • A2A2T2
    • A2A2T3
    • A2A2T4
    • A7MCZ1
    • D3DVQ2
    • O96031
    • Q4VBY8
    • Q672J1
    • Q6IS00
    • Q86V01
    • Q9BZB4
    • Q9UI92
    • Q9UPR2

    Protein attributes for WHSC1 Gene

    Size:
    1365 amino acids
    Molecular mass:
    152258 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA83042.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for WHSC1 Gene

neXtProt entry for WHSC1 Gene

Proteomics data for WHSC1 Gene at MOPED

Selected DME Specific Peptides for WHSC1 Gene

Post-translational modifications for WHSC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for WHSC1 Gene

Gene Families for WHSC1 Gene

Graphical View of Domain Structure for InterPro Entry

O96028

UniProtKB/Swiss-Prot:

NSD2_HUMAN :
  • Contains 1 AWS domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
  • Contains 4 PHD-type zinc fingers.
Domain:
  • Contains 1 AWS domain.
  • Contains 1 HMG box DNA-binding domain.
  • Contains 1 post-SET domain.
  • Contains 2 PWWP domains.
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Similarity:
  • Contains 4 PHD-type zinc fingers.
genes like me logo Genes that share domains with WHSC1: view

Function for WHSC1 Gene

Molecular function for WHSC1 Gene

GENATLAS Biochemistry:
Wolf-Hirschhorn syndrome candidate gene 1,ubiquitously expressed and undergoing complex alternative splicing and differential polyadenylation homolog to Drosophila dysmorphy gene ash,fused to IgH in multiple myeloma with translocation t(4;14)((p16.3;q32) with FGFR3 overexpression
UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
Histone methyltransferase with histone H3 Lys-27 (H3K27me) methyltransferase activity. Isoform RE-IIBP may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.

Enzyme Numbers (IUBMB) for WHSC1 Gene

genes like me logo Genes that share phenotypes with WHSC1: view

Human Phenotype Ontology for WHSC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WHSC1 Gene

MGI Knock Outs for WHSC1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for WHSC1 Gene

Localization for WHSC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WHSC1 Gene

Nucleus. Chromosome.
Isoform 4: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WHSC1 Gene COMPARTMENTS Subcellular localization image for WHSC1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for WHSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with WHSC1: view

Pathways & Interactions for WHSC1 Gene

genes like me logo Genes that share pathways with WHSC1: view

SIGNOR curated interactions for WHSC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for WHSC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0003289 atrial septum primum morphogenesis IEA --
GO:0006302 double-strand break repair TAS --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
genes like me logo Genes that share ontologies with WHSC1: view

Drugs & Compounds for WHSC1 Gene

(3) Drugs for WHSC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with WHSC1: view

Transcripts for WHSC1 Gene

Unigene Clusters for WHSC1 Gene

Wolf-Hirschhorn syndrome candidate 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WHSC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5: - -
SP6:
SP7: - - - -
SP8: - - - -
SP9:
SP10: - - - - - - -
SP11:
SP12:
SP13:
SP14: - - - - - -
SP15: - -
SP16:
SP17: - -
SP18:
SP19:
SP20:
SP21: - - - -
SP22:

ExUns: 16c · 16d ^ 17a · 17b ^ 18a · 18b · 18c · 18d · 18e ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28a · 28b ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - -
SP7:
SP8:
SP9: - - - - - - -
SP10:
SP11: - - - - -
SP12: - -
SP13:
SP14: - - - - - - -
SP15:
SP16:
SP17: - - - -
SP18: - - - - - - - -
SP19:
SP20:
SP21:
SP22: -

ExUns: 29a · 29b ^ 30 ^ 31a · 31b · 31c
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for WHSC1 Gene

GeneLoc Exon Structure for
WHSC1
ECgene alternative splicing isoforms for
WHSC1

Expression for WHSC1 Gene

mRNA expression in normal human tissues for WHSC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WHSC1 Gene

This gene is overexpressed in Platelet (49.0) and Fetal Brain (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for WHSC1 Gene



SOURCE GeneReport for Unigene cluster for WHSC1 Gene Hs.113876

mRNA Expression by UniProt/SwissProt for WHSC1 Gene

O96028-NSD2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with WHSC1: view

Protein tissue co-expression partners for WHSC1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for WHSC1 Gene

Orthologs for WHSC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WHSC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WHSC1 35
  • 82.91 (n)
  • 86.45 (a)
WHSC1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WHSC1 35
  • 88.39 (n)
  • 91.49 (a)
WHSC1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Whsc1 35
  • 87.39 (n)
  • 91.33 (a)
Whsc1 16
Whsc1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WHSC1 35
  • 99.71 (n)
  • 99.85 (a)
WHSC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Whsc1 35
  • 86.85 (n)
  • 90.82 (a)
oppossum
(Monodelphis domestica)
Mammalia WHSC1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WHSC1 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves WHSC1 35
  • 76.93 (n)
  • 81.32 (a)
WHSC1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WHSC1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia whsc1 35
  • 68.29 (n)
  • 70.42 (a)
zebrafish
(Danio rerio)
Actinopterygii whsc1 35
  • 67.56 (n)
  • 67.72 (a)
wufc12c04 35
whsc1 36
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mes-4 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea set-23 36
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9549 36
  • 53 (a)
OneToMany
Species with no ortholog for WHSC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WHSC1 Gene

ENSEMBL:
Gene Tree for WHSC1 (if available)
TreeFam:
Gene Tree for WHSC1 (if available)

Paralogs for WHSC1 Gene

(5) SIMAP similar genes for WHSC1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for WHSC1 Gene

genes like me logo Genes that share paralogs with WHSC1: view

Variants for WHSC1 Gene

Sequence variations from dbSNP and Humsavar for WHSC1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs9679 -- 1,943,285(-) TAAAA(A/C)ACAGC intron-variant, utr-variant-3-prime
rs14647 -- 1,982,108(-) CCCAA(A/C)TGGCA utr-variant-3-prime
rs508436 -- 1,956,260(-) AATTT(A/T)AAAAA intron-variant
rs514882 -- 1,936,690(+) CAGAA(A/C/G/T)ttttt intron-variant
rs515582 -- 1,978,745(-) GAAGG(A/C)TGTCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for WHSC1 Gene

Variant ID Type Subtype PubMed ID
nsv878328 CNV Loss 21882294
dgv5408n71 CNV Loss 21882294
nsv822437 CNV Loss 20364138
dgv5416n71 CNV Loss 21882294
nsv829836 CNV Loss 17160897
esv27096 CNV Loss 19812545
nsv819354 CNV Gain 19587683
esv2726833 CNV Deletion 23290073
esv2726834 CNV Deletion 23290073
nsv878418 CNV Loss 21882294
nsv878419 CNV Loss 21882294

Variation tolerance for WHSC1 Gene

Residual Variation Intolerance Score: 1.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WHSC1 Gene

HapMap Linkage Disequilibrium report
WHSC1
Human Gene Mutation Database (HGMD)
WHSC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WHSC1 Gene

Disorders for WHSC1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for WHSC1 Gene - From: OMIM, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wolf-hirschhorn syndrome
  • 4p deletion syndrome
myeloma
  • multiple myeloma
multiple myeloma
  • plasma cell neoplasm
chromosomal deletion syndrome
monoclonal gammopathy of uncertain significance
  • mgus
- elite association - COSMIC cancer census association via MalaCards
Search WHSC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NSD2_HUMAN
  • Note=A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH.
  • Note=WHSC1 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. WHSC1 is deleted in every case, however deletion of linked genes contributes to both the severity of the core characteristics and the presence of the additional syndromic problems.

Relevant External Links for WHSC1

Genetic Association Database (GAD)
WHSC1
Human Genome Epidemiology (HuGE) Navigator
WHSC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WHSC1
genes like me logo Genes that share disorders with WHSC1: view

No data available for Genatlas for WHSC1 Gene

Publications for WHSC1 Gene

  1. The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. (PMID: 9787135) Chesi M. … Bergsagel P.L. (Blood 1998) 2 3 4 23 67
  2. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (PMID: 9618163) Stec I. … den Dunnen J.T. (Hum. Mol. Genet. 1998) 2 3 23
  3. MMSET is overexpressed in cancers: link with tumor aggressiveness. (PMID: 19121287) Kassambara A. … Moreaux J. (Biochem. Biophys. Res. Commun. 2009) 3 23
  4. Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity. (PMID: 18172012) Kim J.Y. … Seo S.B. (Mol. Cell. Biol. 2008) 3 23
  5. Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. (PMID: 15677557) Keats J.J. … Pilarski L.M. (Blood 2005) 3 23

Products for WHSC1 Gene

Sources for WHSC1 Gene

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